| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.7396400C>G | CA6427768 | CD163L1 | c.1745G>C (p.Gly582Ala) c.1775G>C (p.Gly592Ala) c.362G>C (p.Gly121Ala) c.1670G>C (p.Gly557Ala) c.1028G>C (p.Gly343Ala) c.932G>C (p.Gly311Ala) n.1771G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.7396400C>A | CA383774231 | CD163L1 | c.1745G>T (p.Gly582Val) c.1775G>T (p.Gly592Val) c.362G>T (p.Gly121Val) c.1670G>T (p.Gly557Val) c.1028G>T (p.Gly343Val) c.932G>T (p.Gly311Val) n.1771G>T | dbSNP |
| 12 | g.7396400C>T | CA383774233 | CD163L1 | c.1745G>A (p.Gly582Asp) c.1775G>A (p.Gly592Asp) c.362G>A (p.Gly121Asp) c.1670G>A (p.Gly557Asp) c.1028G>A (p.Gly343Asp) c.932G>A (p.Gly311Asp) n.1771G>A | dbSNP |